Results 131 to 140 of about 565,186 (153)

Unusual case of thiamine responsive megaloblastic anemia.

La Tunisie medicale, 2009
Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and neurosensoriel deafness, responding in varying degrees to thiamine treatment.Report an unusual case of this rare disorderWe report the case of a four-year-old boy who presented unusual ...
Faten, Tinsa, Saadia, Ben Amor, Naziha, Kaabachi, Mehdi, Ben Lasouad, Khadija, Boussetta, Souad, Bousnina   +5 more
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Thiamine responsive megaloblastic anemia: the puzzling phenotype.

Pediatric blood & cancer, 2014
Thiamine responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type 1 diabetes mellitus and sensorineural deafness. Other clinical findings have been described in few cases. The SLC19A2 gene on chromosome 1q 23.3 is implicated in all cases with TRMA.
Ismail, Beshlawi, Shoaib, Al Zadjali, Wafa, Bashir, Mohamed, Elshinawy, Abdulhakim, Alrawas, Yasser, Wali   +5 more
openaire   +1 more source

Thiamine-Responsive Megaloblastic Anemia Syndrome: A Disorder of High-Affinity Thiamine Transport

Blood Cells, Molecules, and Diseases, 2001
Thiamine-responsive megaloblastic anemia (TRMA) syndrome (OMIM No. 249270) comprises a distinctive triad of clinical features: megaloblastic anemia with ringed sideroblasts, diabetes mellitus, and progressive sensorineural deafness. The TRMA gene has been mapped and cloned.
E J, Neufeld, J C, Fleming, E, Tartaglini, M P, Steinkamp   +3 more
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Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.

Genetic counseling (Geneva, Switzerland), 2012
The thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A2 that encodes a thiamine transporter protein.
S, Yilmaz Agladioglu, Z, Aycan, V N, Bas, H N, Peltek Kendirci, A, Onder   +4 more
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Thiamine-responsive megaloblastic anemia syndrome with dysrhythmia

Endocrine Abstracts, 2020
Ebrashy Ibrahim El, Haddad Hemmat El, Heba Moustafa, Mai Galal, Randa Salam, Mohamed Magdi   +5 more
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[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].

La Revue de medecine interne, 2019
Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in
Lu H, Lu H, Vaucher J, Tran C, Vollenweider P, Castioni J   +5 more
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Cone-Rod Dystrophy in Thiamine-Responsive Megaloblastic Anemia

Journal of Pediatric Ophthalmology & Strabismus, 2003
A, Kipioti, N D L, George, A V, Hoffbrand, Eammond, Sheridan   +3 more
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Effect of management of thiamine responsive megaloblastic anemia syndrome with sulbutiamine

2017
Introduction: thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive metabolic disorder. Management of TRMAS focuses on lifelong use of pharmacologic doses of thiamine (Th). High-dose Th may ameliorate diabetes, anemia and, conjecture, hearing defect if started from birth or prenatally.
Mikštienė, Violeta, Songailienė, Jurgita, Byčkova, Jekaterina, Rutkauskienė, Giedrė, Jašinskienė, Edita, Verkauskienė, Rasa, Lesinskas, Eugenijus, Utkus, Algirdas   +7 more
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Thiamine-Responsive Megaloblastic Anemia Syndrome

2003
Kimihiko Oishi, George Diaz, Bruce Gelb
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Thiamine responsive megaloblastic anemia: The puzzling phenotype

Pediatric Blood & Cancer, 2013
Ismail Beshlawi, Shoaib Al Zadjali, Wafa Bashir, Mohamed Elshinawy, Abdulhakim Alrawas, Yasser Wali   +5 more
openaire   +1 more source